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JACC. Case Reports
|
December 18, 2024
Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle
Maarten A Van Diepen, Manou Speleman, Lourens F H J Robbers, et al.
JIMD Reports
|
July 8, 2017
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, et al.
Journal of Inherited Metabolic Disease
|
June 1, 2006
CCL18: a urinary marker of Gaucher cell burden in Gaucher patients
Rolf G Boot, Marri Verhoek, Mirjam Langeveld, et al.
Bone
|
November 1, 2020
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives
Esmee Oussoren, Margreet A E M Wagenmakers, Bianca Link, et al.
Orphanet Journal of Rare Diseases
|
September 24, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, et al.
Orphanet Journal of Rare Diseases
|
June 5, 2026
The impact of cardiovascular risk factors in non-classical Fabry disease
Bram C F Veldman, Laura van Dussen, Mareen R Datema, et al.
Orphanet Journal of Rare Diseases
|
October 22, 2022
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study
Eline C B Eskes, Cathrien R L Beishuizen, Eleonore M Corazolla, et al.
Diagnostics (Basel, Switzerland)
|
February 11, 2023
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study
Mohamed El Sayed, Pieter G Postema, Mareen Datema, et al.
Journal of Inherited Metabolic Disease
|
May 29, 2020
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study
Suzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, et al.
Molecular Genetics and Metabolism
|
May 30, 2017
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI
Esmee Oussoren, Johannes H J M Bessems, Virginie Pollet, et al.
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of 8
Search research articles
Search
Showing results (41-50 of 79) with videos related to
Sort By:
Page
of 8
JACC. Case Reports
|
December 18, 2024
Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle
Maarten A Van Diepen, Manou Speleman, Lourens F H J Robbers, et al.
JIMD Reports
|
July 8, 2017
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency
Peter van Vliet, Annelies E Berden, Mojca K M van Schie, et al.
Journal of Inherited Metabolic Disease
|
June 1, 2006
CCL18: a urinary marker of Gaucher cell burden in Gaucher patients
Rolf G Boot, Marri Verhoek, Mirjam Langeveld, et al.
Bone
|
November 1, 2020
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives
Esmee Oussoren, Margreet A E M Wagenmakers, Bianca Link, et al.
Orphanet Journal of Rare Diseases
|
September 24, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Femke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, et al.
Orphanet Journal of Rare Diseases
|
June 5, 2026
The impact of cardiovascular risk factors in non-classical Fabry disease
Bram C F Veldman, Laura van Dussen, Mareen R Datema, et al.
Orphanet Journal of Rare Diseases
|
October 22, 2022
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study
Eline C B Eskes, Cathrien R L Beishuizen, Eleonore M Corazolla, et al.
Diagnostics (Basel, Switzerland)
|
February 11, 2023
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study
Mohamed El Sayed, Pieter G Postema, Mareen Datema, et al.
Journal of Inherited Metabolic Disease
|
May 29, 2020
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study
Suzan J G Knottnerus, Jeannette C Bleeker, Sacha Ferdinandusse, et al.
Molecular Genetics and Metabolism
|
May 30, 2017
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI
Esmee Oussoren, Johannes H J M Bessems, Virginie Pollet, et al.
Page
of 8